Phenotypes for disease #01597 (CPVT (tachycardia, ventricular (CPVT)), OMIM:192605)

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Phenotype details: additional information on the phenotype of the individual, preferably use HPO terms only (http://www.human-phenotype-ontology.org/)

Diagnosis/Initial: initial diagnosis, before molecular testing

Diagnosis/Definite: phenotype individual after molecular testing (OMIM abbreviation)

Inheritance: Indicates the inheritance of the phenotype in the family; unknown, familial (autosomal/X-linked, dominant/ recessive), paternal (Y-linked), maternal (mitochondrial), isolated (sporadic) or complex
All options:

Unknown
Familial
Familial, autosomal dominant
Familial, autosomal recessive
Familial, X-linked
Familial, X-linked dominant
Familial, X-linked dominant, male sparing
Familial, X-linked recessive
Paternal, Y-linked
Maternal, mitochondrial
Isolated (sporadic)
Di-genic
Complex
- = Not applicable

Age/Examination: age at which the individual was examined.

35y = 35 years
04y08m = 4 years and 8 months
00y00m01d12h = 1 day and 12 hours
18y? = around 18 years
30y-40y = between 30 and 40 years
>54y = older than 54
? = unknown

Age/Diagnosis: age diagnosis was confirmed

35y = 35 years
04y08m = 4 years and 8 months
00y00m01d12h = 1 day and 12 hours
18y? = around 18 years
30y-40y = between 30 and 40 years
>54y = older than 54
? = unknown

Age/Onset: Age first symptoms disease appeared in individual:

35y = 35 years
04y08m = 4 years and 8 months
00y00m01d12h = 1 day and 12 hours
18y? = around 18 years
30y-40y = between 30 and 40 years
>54y = older than 54
? = unknown

Phenotype/Onset: individual's phenotype at Age/Onset described using HPO

Protein: result from protein staining

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Operator	Column type	Example	Matches
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space	Text	Arg Ser	all entries containing 'Arg' and 'Ser'
\|	Text	Arg\|Ser	all entries containing 'Arg' or 'Ser'
!	Text	!fs	all entries not containing 'fs'
^	Text	^p.(Arg	all entries beginning with 'p.(Arg'
$	Text	Ser)$	all entries ending with 'Ser)'
=""	Text	=""	all entries with this field empty
=""	Text	="p.0"	all entries exactly matching 'p.0'
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!=""	Text	!="p.0"	all entries not exactly matching 'p.0?'
combination	Text	*\|Ter !fs	all entries containing '*' or 'Ter' but not containing 'fs'
	Date	2020	all entries matching the year 2020
\|	Date	2020-03\|2020-04	all entries matching March or April, 2020
!	Date	!2020-03	all entries not matching March, 2020
<	Date	<2020	all entries before the year 2020
<=	Date	<=2020-06	all entries in or before June, 2020
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>=	Date	>=2020-06-15	all entries on or after June 15th, 2020
combination	Date	2019\|2020 <2020-03	all entries in 2019 or 2020, and before March, 2020
	Numeric	23	all entries exactly matching 23
\|	Numeric	23\|24	all entries exactly matching 23 or 24
!	Numeric	!23	all entries not exactly matching 23
<	Numeric	<23	all entries lower than 23
<=	Numeric	<=23	all entries lower than, or equal to, 23
>	Numeric	>23	all entries higher than 23
>=	Numeric	>=23	all entries higher than, or equal to, 23
combination	Numeric	>=20 <30 !23	all entries with values from 20 to 29, but not equal to 23

Some more advanced examples:

Example	Matches
Asian	all entries containing 'Asian', 'asian', including 'Caucasian', 'caucasian', etc.
Asian !Caucasian	all entries containing 'Asian' but not containing 'Caucasian'
Asian\|African !Caucasian	all entries containing 'Asian' or 'African', but not containing 'Caucasian'
"South Asian"	all entries containing 'South Asian', but not containing 'South East Asian'

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13 entries on 1 page. Showing entries 1 - 13.

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Phenotype ID	Phenotype details	Diagnosis/Initial	Diagnosis/Definite	Inheritance	Age/Examination	Age/Diagnosis	Age/Onset	Phenotype/Onset	Protein	Owner	Individual ID
0000159258	resting ECG following cardiac resuscitation numerous polymorphic or bidirectional ventricular extra beats/runs of polymorphic ventricular tachycardia; 2y-died in hospital after 3 weeks after severe post-anoxic com	catecholaminergic polymorphic ventricular tachycardia	CPVT-5	Isolated (sporadic)	-	-	2y	syncope followed by cardiac arrest after shock	-	Johan den Dunnen	00210693
0000159259	onset in infancy; 26y-resting ECG normal, no prolongation QT-interval, exercise testing numerous bidirectional ventricular extra beats, proximal muscle weakness	catecholaminergic polymorphic ventricular tachycardia	CPVT-5	Isolated (sporadic)	-	-	-	recurrent syncopes at exercise since infancy	-	Johan den Dunnen	00210694
0000159260	clinical examination shows CPVT	catecholaminergic polymorphic ventricular tachycardia	CPVT-5	Isolated (sporadic)	-	-	-	-	-	Johan den Dunnen	00210695
0000204487	-	-	-	Unknown	-	-	-	-	-	Liliana Dain	00266727
0000354875	see paper; ..., 22y-ventricular fibrillation, cardiac arrest; ECG normal QT interval, isoproterenol infusion resulted in QT prolongation; recurrent episodes exercise‐/emotion‐induced atrial/ventricular arrhythmias	ventricular fibrillation	CPVT3	Familial, autosomal recessive	22y	-	-	-	-	Johan den Dunnen	00469722
0000354879	see paper; ..., intermittent palpitations, three syncope episodes triggered by emotional stress/exercises; ECG resting normal, no prolonged QT interval	ventricular tachycardia	CPVT3	Familial, autosomal recessive	13y	-	-	-	-	Johan den Dunnen	00469728
0000354881	see paper; ...	arrhythmia syndrome	CPVT3	Familial, autosomal recessive	15y	-	-	-	-	Johan den Dunnen	00469729
0000354882	see paper; ...	arrhythmia syndrome	CPVT3	Familial, autosomal recessive	51y	-	-	-	-	Johan den Dunnen	00469730
0000354883	see paper; ...	arrhythmia syndrome	CPVT3	Familial, autosomal recessive	13y/10y	-	-	-	-	Johan den Dunnen	00469731
0000354884	see paper; ...	arrhythmia syndrome	CPVT3	Familial, autosomal recessive	17y	-	-	-	-	Johan den Dunnen	00469732
0000354885	see paper; ..., 12y-cardiac arrest; HP:0006682 (premature ventricular contractions), -HP:0001663 (no ventricular fibrillation), HP:0004751 (paroxysmal ventricular tachycardia), HP:0001695 (cardiac arrest), -HP:0001962 (no palpitations), HP:0001657 (prolonged QTc), HP:0000729 (autistic behavior), HP:0031195 (apical hypertrabeculation of the left ventricle	cardiac arrest	CPVT3	Familial, autosomal recessive	12y	-	-	-	-	Johan den Dunnen	00469733
0000354886	see paper; ...	ventricular tachycardia	CPVT3	Familial, autosomal recessive	24y	16y	14y	-	-	Johan den Dunnen	00469734
0000354887	see paper; ..., sudden cardiopulmonary arrest; frequent ventricular fibrillation	sudden cardiopulmonary arrest	CPVT3	Familial, autosomal recessive	12y	-	-	-	-	Johan den Dunnen	00469735

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Global Variome shared LOVD